Full data view for gene NIPAL4

Information The variants shown are described using the NM_001099287.1 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-10A>G r.(?) p.(=) Unknown - benign g.156887133A>G g.157460125A>G NIPAL4(NM_001099287.1):c.-10A>G - NIPAL4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-10A>G r.(?) p.(=) Unknown - benign g.156887133A>G g.157460125A>G NIPAL4(NM_001099287.1):c.-10A>G - NIPAL4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.283C>T r.(?) p.(Leu95Phe) Unknown - likely benign g.156890161C>T - NIPAL4(NM_001099287.1):c.283C>T (p.L95F) - CYFIP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.398G>T r.(?) p.(Gly133Val) Unknown - VUS g.156890276G>T g.157463268G>T - - CYFIP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.527C>A r.(?) p.(Ala176Asp) Unknown - likely pathogenic g.156895736C>A g.157468728C>A NIPAL4(NM_001099287.1):c.527C>A (p.A176D) - NIPAL4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.527C>A r.(?) p.(Ala176Asp) Unknown - likely pathogenic g.156895736C>A - NIPAL4(NM_001099287.1):c.527C>A (p.A176D) - NIPAL4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.527C>A r.(?) p.(Ala176Asp) Both (homozygous) ACMG pathogenic g.156895736C>A - - - NIPAL4_000004 - - - - Germline - - - - - DNA SEQ-NG - - gangliosidosis-I, ichthyosis - - - - - - - - - - - 1 Anju Shukla
+/. - c.555C>A r.(?) p.(Tyr185Ter) Unknown - pathogenic g.156895764C>A g.157468756C>A NIPAL4(NM_001099287.1):c.555C>A (p.Y185*) - NIPAL4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.637A>G r.(?) p.(Arg213Gly) Unknown - benign g.156898690A>G g.157471682A>G NIPAL4(NM_001099287.1):c.637A>G (p.R213G) - NIPAL4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.637A>G r.(?) p.(Arg213Gly) Unknown - benign g.156898690A>G g.157471682A>G NIPAL4(NM_001099287.1):c.637A>G (p.R213G) - NIPAL4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.838C>T r.(?) p.(Arg280Cys) Unknown - VUS g.156899405C>T - NIPAL4(NM_001099287.1):c.838C>T (p.R280C) - CYFIP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.889G>A r.(?) p.(Gly297Arg) Unknown - pathogenic g.156899456G>A g.157472448G>A - - CYFIP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1302T>C r.(?) p.(Val434=) Unknown - benign g.156899869T>C g.157472861T>C NIPAL4(NM_001099287.1):c.1302T>C (p.V434=) - ADAM19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1302T>C r.(?) p.(Val434=) Unknown - benign g.156899869T>C g.157472861T>C NIPAL4(NM_001099287.1):c.1302T>C (p.V434=) - ADAM19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1358C>T r.(?) p.(Ser453Leu) Unknown - benign g.156899925C>T g.157472917C>T - - ADAM19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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